A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant

被引：1

作者：

Liu, Yutong ^{[1
]}

Wang, Zeyu ^{[1
]}

Zhang, Zhongyu ^{[1
]}

Sun, Yuanyuan ^{[1
]}

Zhang, Yanyan ^{[1
]}

Yang, Jiamei ^{[1
]}

机构：

[1] Zhengzhou Univ, Affiliated Hosp 2, Dept Oncol, Zhengzhou, Peoples R China

来源：

FRONTIERS IN ONCOLOGY | 2023年 / 13卷

关键词：

gastric polyposis; juvenile polyposis; juvenile polyposis syndrome; SMAD4 pathogenic variants; case report; MASSIVE GASTRIC POLYPOSIS; LARGE GENOMIC DELETIONS; MUTATION CARRIERS; BMPR1A MUTATIONS; COLONIC POLYPS; GERMLINE SMAD4; PHENOTYPE; CANCER; MADH4; PTEN;

D O I：

10.3389/fonc.2023.1114097

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BackgroundJuvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder that is a type of hamartomatous polyp syndrome, and its incidence rate is approximately 1/100000. The main clinical feature is the presence of multiple juvenile polyps in the gastrointestinal tract, most often in the colorectal tract. We present a case of juvenile polyposis syndrome with massive gastric polyposis. Case presentationA 50-year-old male was admitted to the hospital due to abdominal distension and poor appetite. Gastroscopy revealed a large number of gastric polyps. Pathological findings revealed gastric juvenile polyps. Genetic testing revealed that he and his brother both carried SMAD4: c.266_269del germline pathogenic variant. The final diagnosis was juvenile polyposis syndrome of the stomach. He once suffered from colon cancer and bladder cancer. One of his brothers died of colon cancer, and the other brother suffered from colon polyps. ConclusionsGastric involvement in juvenile polyposis syndrome is relatively rare. When massive gastric polyposis is found, gene detection should be carried out as soon as possible, so that rapid diagnosis and treatment can be obtained.

引用

页数：5

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